Variant report

Variant	esv3468269
Chromosome Location	chr4:97176198-97178004
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:97174563..97176732-chr4:97282381..97284958,2	K562	blood:

Extended variants
information (count: 69 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:69 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1857891	chr4:97176215-97176216	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs542829685	chr4:97176222-97176223	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs191575700	chr4:97176242-97176243	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs531916903	chr4:97176254-97176255	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs1857890	chr4:97176260-97176261	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs183827013	chr4:97176280-97176281	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs527685640	chr4:97176290-97176291	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs140192984	chr4:97176293-97176294	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs1857889	chr4:97176299-97176300	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs554662331	chr4:97176353-97176354	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs536521290	chr4:97176397-97176398	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs567245898	chr4:97176457-97176458	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs576515730	chr4:97176475-97176476	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs550079692	chr4:97176499-97176500	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs569903182	chr4:97176514-97176515	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs188101150	chr4:97176520-97176521	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs192583337	chr4:97176536-97176537	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs34624167	chr4:97176562-97176563	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs370323742	chr4:97176625-97176626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs534331732	chr4:97176651-97176652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs554110544	chr4:97176678-97176679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs529740725	chr4:97176690-97176691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs574017872	chr4:97176692-97176693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs116057926	chr4:97176708-97176709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs371695392	chr4:97176801-97176802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs556371920	chr4:97176802-97176803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs185554063	chr4:97176806-97176807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs1395200	chr4:97176825-97176826	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs565241197	chr4:97176828-97176829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs190131299	chr4:97176836-97176837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs541457146	chr4:97176864-97176865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs116247682	chr4:97176865-97176866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs545329579	chr4:97176878-97176879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs530103596	chr4:97176920-97176921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs550142505	chr4:97176972-97176973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs569932223	chr4:97177010-97177011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs181738715	chr4:97177029-97177030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs58537993	chr4:97177055-97177056	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs62316816	chr4:97177081-97177082	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs534387793	chr4:97177108-97177109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs527304125	chr4:97177125-97177126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs184964340	chr4:97177203-97177204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs536646435	chr4:97177221-97177222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs1395199	chr4:97177286-97177287	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
45	rs576632731	chr4:97177324-97177325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs569395575	chr4:97177335-97177336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs531461318	chr4:97177360-97177361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs375315926	chr4:97177458-97177459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs188518904	chr4:97177471-97177472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs114078635	chr4:97177499-97177500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Parkinson disease	18923514	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
Breast cancer	16272173	CNVD
Colorectal cancer	19359472	CNVD
Malignant mesothelioma	18160781	CNVD
Medulloblastoma	18056178	CNVD
Multiple myeloma	17077331	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Oral squamous cell carcinoma	17134496	CNVD
4q-syndrome	17576883	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Muscular dystrophy	21149563	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Cervical cancer	21062161	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Myelodysplastic syndrome	21251322	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	18414403	CNVD
primary effusion lymphomas	17116491	CNVD
small cell lung cancer	20016488	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Colorectal cancer	20459617	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Hirschsprung''s Disease	21712996	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Breast cancer	17393978	CNVD
Ovarian cancer	21720365	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Esophageal cancer	21851588	CNVD
Cancer	19907438	CNVD
Prostate cancer	16573809	CNVD
Multiple myeloma	16616336	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	19197363	CNVD
Melanoma	20688739	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:97172200-97183200	Weak transcription	Gastric	stomach
2	chr4:97176200-97176600	Enhancers	iPS-18 Cell Line	embryonic stem cell
3	chr4:97176600-97181200	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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